ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.4-1717G>A (rs1057515721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000269791 SCV000481354 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327144 SCV000481355 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000327144 SCV000749233 uncertain significance Gorlin syndrome 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 16 of the PTCH1 protein (p.Gly16Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 367677). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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